Classifications:

Summaries for 5-Alpha Reductase Deficiency

NIH Rare Diseases
:50
5-alpha reductase deficiency is an inherited condition that primarily affects male sexual development before birth and during puberty. people with this condition are genetically male, with one x and one y chromosome in each cell, and they have male gonads (testes). their bodies, however, do not produce enough of a hormone called dihydrotestosterone (dht), which is critical for male sexual development. most are born with external genitalia that appear female. in other cases, affected individuals may have ambiguous genitalia. others may have genitalia that appear predominantly male, often with an unusually small penis (micropenis) and the urethra opening on the underside of the penis (hypospadias). this condition is caused by mutations in the srd5a2 gene and is inherited in an autosomal recessive pattern.
last updated: 12/2/2011

Genetics Home Reference
:25
5-alpha reductase deficiency is a condition that affects male sexual development before birth and during puberty. People with this condition are genetically male, with one X and one Y chromosome in each cell, and they have male gonads (testes). Their bodies, however, do not produce enough of a hormone called dihydrotestosterone (DHT). DHT has a critical role in male sexual development, and a shortage of this hormone disrupts the formation of the external sex organs before birth.